What is the Difference Between Niemann-Pick Disease and Gaucher’s Disease

The key difference between Niemann-Pick disease and Gaucher’s disease is that Niemann-Pick disease is a lysosomal storage disorder caused due to the deficiency of an enzyme known as acid sphingomyelinase and some special proteins, while Gaucher’s disease is a lysosomal storage disorder caused due to the deficiency of an enzyme called beta glucocerebrosidase.

Lysosomal storage disorders (LSDs) are rare genetic conditions. They are caused by the build-up of toxic materials in the body’s cells due to a lack of certain enzymes that break down fats, sugars, and other substances. Lysosomal storage disorders normally occur during pregnancy or soon after birth. They rarely appear in adults. Some well-known examples of lysosomal storage disorders include Fabry disease, Gaucher disease, Niemann-Pick disease (NP), Krabbe disease, metachromatic leukodystrophy, Sandhoff disease, and Tay-Sachs disease.

CONTENTS

1. Overview and Key Difference
2. What is Niemann-Pick Disease 
3. What is Gaucher’s Disease
4. Similarities – Niemann-Pick Disease and Gaucher’s Disease
5. Niemann-Pick Disease vs Gaucher’s Disease in Tabular Form
6. Summary – Niemann-Pick Disease vs Gaucher’s Disease

What is Niemann-Pick Disease?

The Niemann-Pick disease is an inherited metabolic disorder that leads to abnormal amounts of lipids building up in organs such as the brain, spleen, liver, lungs, and bone marrow. Niemann-Pick disease types A and B are caused by mutations in a gene known as sphingomyelin phosphodiesterase 1 (SMPD1). This mutation leads to the decreased activity of acid sphingomyelinase (ASM). Ultimately, the shortage of acid sphingomyelinase results in reduced breakdown of sphingomyelin (fat) and cause this fat to accumulate in cells.  However, Niemann-Pick disease type C is caused by a mutation in either NPC1 or NPC2 genes. These genes make special proteins in lysosomes which are responsible for the movement of cholesterol and other fats. Therefore, this leads to the accumulation of cholesterol and other fats in certain organs, such as the liver and spleen.

Moreover, the signs and symptoms of Niemann-Pick disease may include clumsiness and difficulty walking, excessive muscle contractions or eye movements, progressive loss of vision and hearing, sleep disturbances, difficulties in swallowing and eating, and recurrent pneumonia.

The Niemann-Pick disease is diagnosed by medical history, blood or skin sample (biopsy), magnetic resonance imaging (MRI), eye examination, genetic testing, and prenatal testing. Furthermore, there is no permanent cure for type A and type B Niemann-Pick disease. But physical therapy might help people who suffer from type A and type B. For people with mild to moderate type C, Niemann-Pick disease can be treated through a drug called Miglustat (Zavesca).

What is Gaucher’s Disease?

Gaucher’s disease is an inherited metabolic disorder. This disorder is due to mutations in a gene called GBA gene. The GBA gene provides instructions for making an enzyme known as beta-glucocerebrosidase. This enzyme usually breaks down a fatty substance called glucocerebroside into a sugar (glucose) and a fat (ceramide). Without enough of the enzyme, glucocerebroside, and some other substances build up to toxic levels within cells. There are three types of Gaucher’s disease: types 1, 2, and 4. Type 1 is the most common one.

The symptoms of Gaucher’s disease may include anemia, enlarged organs (liver and spleen), bruising, bleeding and clotting issues, fatigue, lung problems, problems affecting bones, feeding challenges and developmental delays, cognitive difficulties, eye problems, problems with gross motor skills and coordination, seizures, muscle spasms, and quick, jerky movements.

Gaucher’s disease can be diagnosed through physical examinations, laboratory tests (blood tests), imaging tests such as dual-energy X-ray absorptiometry (DXA), MRI, and genetic testing. Furthermore, treatment options for Gaucher’s disease may include enzyme replacement therapy, miglustat (Zavesca), eliglustat (Cerdelga), osteoporosis drugs, surgical and other procedures such as bone marrow transplant and spleen removal.

What are the Similarities Between Niemann-Pick Disease and Gaucher’s Disease?

• Niemann-Pick disease and Gaucher’s disease are two inherited lysosomal storage or metabolic disorders.
• Both disorders are inherited in an autosomal recessive manner.
• Both disorders cause neurological symptoms.
• They can be diagnosed through physical examination, imaging tests, and genetic testing.
• They are treated through specific medications and therapies.

What is the Difference Between Niemann-Pick Disease and Gaucher’s Disease?

The Niemann-Pick disease occurs due to the deficiency of acid sphingomyelinase enzyme and some special proteins, while the Gaucher disease occurs due to the deficiency of the beta glucocerebrosidase enzyme. Thus, this is the key difference between Niemann-Pick disease and Gaucher’s disease. Furthermore, Niemann-Pick disease is associated with mutations in genes such as SMPD1, NPC1, or NPC2. On the other hand, Gaucher’s disease is associated with mutations in a gene called GBA.

The infographic below presents the differences between Niemann-Pick disease and Gaucher’s disease in tabular form for side-by-side comparison.

Summary – Niemann-Pick Disease vs Gaucher’s Disease

Lysosomal storage disorders are inherited metabolic diseases. They are a result of an abnormal build-up of various toxic materials in the cells of the body due to a lack of certain enzymes.  Niemann-Pick disease and Gaucher’s disease are two inherited lysosomal storage disorders. The Niemann-Pick disease is caused by the accumulation of sphingomyelin (fat) and cholesterol due to a lack of an enzyme called acid sphingomyelinase and some special proteins, while Gaucher’s disease is caused by the accumulation of glucocerebroside due to a lack of an enzyme called beta glucocerebrosidase. So, this summarizes the difference between Niemann-Pick disease and Gaucher’s disease.

Reference:

1. “Niemann-Pick Disease.” National Institute of Neurological Disorders and Stroke.
2. “Gaucher Disease.” JHM.

Image Courtesy:

1. “Niemann–Pick disease” By humpath.com – Niemann-Pick disease (CC BY 2.0) via Commons Wikimedia
2. “Gaucher disease – very high mag” By Nephron – Own work (CC BY-SA 3.0) via Commons Wikimedia